Canonical Allele Identifier: CA15068100
Gene: CLCN6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11806987T>C
GRCh37 chr1:g.11867044T>C
gnomAD v2:
1:11867044 T / C
gnomAD v3:
1:11806987 T / C
gnomAD v4:
chr1-11806987-T-C
Joint Max Group AF 0.89325817 (EAS)
Genomes Max Group AF 0.87414439 (EAS)
Exomes Max Group AF 0.89354465 (EAS)
dbSNP:
3737964
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11806987T>C , CM000663.2:g.11806987T>C GRCh38
NC_000001.10:g.11867044T>C , CM000663.1:g.11867044T>C GRCh37
NC_000001.9:g.11789631T>C NCBI36
NG_008766.1:g.5838T>C
NG_013351.1:g.4117A>G , LRG_726:g.4117A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000346436.11:c.88-144T>C MANE Select ENSP00000234488.9:n.88-144T>C
ENST00000400892.3:c.88-144T>C ENSP00000496938.1:n.88-144T>C
ENST00000312413.10:c.88-144T>C ENSP00000308367.7:n.88-144T>C
ENST00000346436.10:c.88-144T>C ENSP00000234488.9:n.88-144T>C
ENST00000376490.7:n.88-144T>C
ENST00000376491.7:n.88-144T>C
ENST00000376492.3:n.88-144T>C
ENST00000376496.4:c.88-144T>C ENSP00000365679.3:n.88-144T>C
ENST00000376497.7:c.88-144T>C ENSP00000365680.3:n.88-144T>C
NM_001256959.1:c.88-144T>C NP_001243888.1:n.88-144T>C
NM_001286.3:c.88-144T>C NP_001277.1:n.88-144T>C
NR_046428.1:n.255-144T>C
NM_001286.4:c.88-144T>C NP_001277.1:n.88-144T>C
NM_001256959.2:c.88-144T>C NP_001243888.2:n.88-144T>C
NM_001286.5:c.88-144T>C MANE Select NP_001277.2:n.88-144T>C
NR_046428.2:n.160-144T>C
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